Literature DB >> 18458233

HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.

C A A Hewamadduma1, J Kirby, C Kershaw, J Martindale, A Dalton, C J McDermott, P J Shaw.   

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Year:  2008        PMID： 18458233     DOI： 10.1212/01.wnl.0000311395.31081.70

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

Review 1.  Movement disorders: Are umbrella terms for rare genetic diseases still useful?

Authors:  Alexandra Durr
Journal:  Nat Rev Neurol       Date:  2016-04-15       Impact factor: 42.937

2.  Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.

Authors:  Philip M Boone; Pengfei Liu; Feng Zhang; Claudia M B Carvalho; Charles F Towne; Sat Dev Batish; James R Lupski
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

3.  Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Authors:  Rebecca Schüle; Elisabeth Brandt; Kathrin N Karle; Maria Tsaousidou; Stephan Klebe; Sven Klimpe; Michaela Auer-Grumbach; Andrew H Crosby; Christian A Hübner; Ludger Schöls; Thomas Deufel; Christian Beetz
Journal:  Neurogenetics       Date:  2008-10-15       Impact factor: 2.660

Review 4.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

Authors:  Patrick A Dion; Hussein Daoud; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2009-10-13       Impact factor: 53.242

5.  New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).

Authors:  Channa Hewamadduma; Christopher McDermott; Janine Kirby; Andrew Grierson; Maria Panayi; Ann Dalton; Yusuuf Rajabally; Pamela Shaw
Journal:  Neurogenetics       Date:  2008-11-26       Impact factor: 2.660

6.  Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.

Authors:  Toshiyuki Yamamoto; Keiko Yamamoto-Shimojima; Yuki Ueda; Katsumi Imai; Yukitoshi Takahashi; Eri Imagawa; Noriko Miyake; Naomichi Matsumoto
Journal:  Hum Genome Var       Date:  2018-07-19

7.  Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.

Authors:  Loretta Racis; Eugenia Storti; Maura Pugliatti; Virgilio Agnetti; Alessandra Tessa; Filippo M Santorelli
Journal:  BMC Med Genet       Date:  2014-04-01       Impact factor: 2.103
  7 in total

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